KLHL41 kelch like family member 41
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 40 |
Likely pathogenic | 2 | 16 |
Benign | 0 | 46 |
Likely benign | 0 | 206 |
Conflicting classifications of pathogenicity | 0 | 6 |
other | 4 | 0 |
Uncertain significance | 0 | 282 |
Ranking
ClinVar | |
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0 |
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0 |
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90 |
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466 |
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8 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | KBTBD10 |
SYNONYM | Krp1 |
SYNONYM | SARCOSIN |
MIM | 607701 OMIM |
HGNC | HGNC:16905 HGNC |
Ensembl | ENSG00000239474 Ensembl |
AllianceGenome | HGNC:16905 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000284669.2 | hg38 | chr2 | 169,509,702 | 169,526,258 | 16,557 |
ENST00000284669.2 | hg19 | chr2 | 170,366,212 | 170,382,768 | 16,557 |
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